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WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.27926159G>A , CM000677.2:g.27926159G>A
GRCh38
NC_000015.9:g.28171305G>A , CM000677.1:g.28171305G>A
GRCh37
NC_000015.8:g.25844900G>A
NCBI36
NG_009846.1:g.178154C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000354638.8:c.2047C>T
MANE Select
ENSP00000346659.3:p.Leu683=
ENST00000353809.9:c.1975C>T
ENSP00000261276.8:p.Leu659=
ENST00000354638.7:c.2047C>T
ENSP00000346659.3:p.Leu683=
NM_000275.2:c.2047C>T
NP_000266.2:p.Leu683=
NM_001300984.1:c.1975C>T
NP_001287913.1:p.Leu659=
XM_011521639.1:c.2071C>T
XP_011519941.1:p.Leu691=
XM_011521640.1:c.2047C>T
XP_011519942.1:p.Leu683=
XM_011521641.1:c.2071C>T
XP_011519943.1:p.Leu691=
XM_011521642.1:c.1999C>T
XP_011519944.1:p.Leu667=
XM_011521643.1:c.1999C>T
XP_011519945.1:p.Leu667=
XM_011521644.1:c.1933C>T
XP_011519946.1:p.Leu645=
XM_011521645.1:c.2071C>T
XP_011519947.1:p.Leu691=
XM_011521640.2:c.2047C>T
XP_011519942.1:p.Leu683=
XM_017022255.1:c.2071C>T
XP_016877744.1:p.Leu691=
XM_017022256.1:c.2071C>T
XP_016877745.1:p.Leu691=
XM_017022257.1:c.1999C>T
XP_016877746.1:p.Leu667=
XM_017022258.1:c.2071C>T
XP_016877747.1:p.Leu691=
XM_017022259.1:c.1999C>T
XP_016877748.1:p.Leu667=
XM_017022260.1:c.1933C>T
XP_016877749.1:p.Leu645=
XM_017022261.1:c.1876C>T
XP_016877750.1:p.Leu626=
XM_017022262.1:c.2071C>T
XP_016877751.1:p.Leu691=
XM_017022263.1:c.2071C>T
XP_016877752.1:p.Leu691=
XM_017022264.1:c.2071C>T
XP_016877753.1:p.Leu691=
NM_000275.3:c.2047C>T
MANE Select
NP_000266.2:p.Leu683=
NM_001300984.2:c.1975C>T
NP_001287913.1:p.Leu659=